Whole tumor DNA sequencing is becoming standard for children with cancer

Whole tumor DNA sequencing is becoming standard for children with cancer

Full DNA readouts of cancer cancers at diagnosis have been implemented as a standard of care in Europeans. By determining a child's type of cancer as accurately as possible, the Princess Máxima Center for Pediatric Oncology aims to offer each individual child the treatment that is most likely to work for them.

To determine the exact form of childhood cancer, the DNA in children's tumor cells is analyzed at diagnosis. Since May, the Princess Máxima Center has begun analyzing all of the children's tumor DNA as a care, using a technology called Gym's genome sequencing.

The Máxima Center made the switch because whole genome sequencing is more comprehensive than the traditional technique, which only analyzed the protein-coding portion of DNA, which makes up about 2% of complete DNA. The move not only improves diagnostics, but also provides valuable data for developing new treatments and researching the development of childhood cancer.

Dr. Bastiaan Tops, Head of the Childhood Cancer Pathology Laboratory at the Princess Máxima Center for Pediatric Oncology: 'By analyzing complete DNA, we can now reveal any genetic changes in the tumor cell. This switch provides a more complete picture of a child's cancer. This approach enables applications such as pharmacogenomics, where we can offer treatments based on a child's genetic profile. It also allows us to more closely monitor tumor progression during treatment at the molecular level. '

Pharmacogenomics

Whole genome sequencing not only looks at the DNA of the tumor cells, but also the so-called germline DNA in a child's healthy cells. This enables pharmacogenomic analyzes that help deliver precision medicine treatment according to the child's inherited genetic profile.

Dr. Meta Diekstra Postdoctoral researcher in the Huitema group and hospital pharmacist at the Princess Máxima Center for Pediatric Oncology leads the clinical implementation of pharmacogenetic testing with the support of the Princess Máxima Center Foundation.

A key advantage of using whole genome sequencing in diagnosis is that we can reuse the data for pharmacogenomic analysis. Special software allows us to quickly and reliably scan the data for genetic variants that affect a child's response to different medications, both in terms of side effects and effectiveness. This allows us to tailor treatment more precisely, from adjusting the dose to choosing a different medication that better matches a child's genetic profile. “

Dr. Meta Diekstra Postdoctoral researcher in the Huitema group and hospital pharmacist at the Princess Máxima Center for Pediatric Oncology

Research data and infrastructure

Analysis of complete tumor DNA at diagnosis also offers scientists new insights into genetically inherited forms of childhood cancer and new leads for immunotherapy research.

Dr. Patrick Kemmeren, research group leader and head of the Big Data Core:'The implementation of whole genome sequencing in diagnosis would not have been possible without the close collaboration between our biology group and our diagnostics colleagues. Together we have developed a unique data infrastructure setup that is shared between departments, ensuring that genetic information about a child's tumor is not only more quickly available for research, but also that we can quickly translate innovations into the clinic.“

The scientists also plan to share anonymized whole genome sequencing data with other research institutions working on childhood cancer. Kemmeren emphasizes the importance of this:“Childhood cancer is rare, and in addition to studying the data itself, we hope that by sharing this data we will accelerate the development of new treatments and gain a better understanding of the development of childhood cancer.”

Sources: